Are omphalocele and neural tube defects related congenital anomalies? Data from 21 registries in europe (EUROCAT)

E. Calzolari*, F. Bianchi, H. Dolk, D. Stone, M. Milan, M. Lechat, P. Leurquin, S. Goyens, G. Astolfi, S. Volpato, S. Aymé, A. Calabro, M. Clementi, R. Tenconi, M. Cornel, A. Cuschieri, S. Garcia-Minaur, E. Garne, Y. Gillerot, J. GoujardD. Hansen-Koening, M. Roulleaux, P. J. Howard, Z. Johnson, D. F. Lillis, N. C. Nevin, V. Nelen, T. Pexieder, A. Pierini, C. Stoll, I. Svel

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


We have analyzed the association between omphalocele and neural tube defects (O/NTD) previously reported in epidemiological studies of EUROCAT registry data [Dolk et al., 1991; Calzolari et al., 1995]. By examining differences in prevalence between the United Kingdom and Ireland (UKI) and Continental Europe and Malta (CEM) and differences in sex ratio, the possible etiopathogenetic differences between O/NTD association and omphalocele without NTD and NTD without omphalocele were investigated. The distribution of O/NTD cases according to NTD site in the two geographic areas shows in the UKI a tendency for omphalocele to associate with anencephaly/spina bifida and with anencephaly. In CEM centers, these types of NTD are much rarer. The pattern of other anomalies occurring in combination with O/NTD association in the same babies was also analysed.

Original languageEnglish
Pages (from-to)79-84
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number1
Publication statusPublished - 3 Oct 1997
Externally publishedYes

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